ArticleCancer biomarkers : section A of Disease markers2017
Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.
Article in Cancer biomarkers : section A of Disease markers, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 7 citations in OpenAlex.
- Exploring the presence of the GPR126 single nucleotide polymorphism (rs536714306) in periodontal patients of European ancestry.BMC research notes · 2025Article
- Increased Expression of the Mitochondrial Glucocorticoid Receptor Enhances Tumor Aggressiveness in a Mouse Xenograft Model.International journal of molecular sciences · 2023Article
- Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.JBMR plus · 2022Article
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7 authors.
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Abstract
backgroundNevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease with a complex genetic etiology. Although three causative genes (PTCH1, PTCH2, SUFU) have been identified through linkage analysis and Sanger sequencing, the genetic background of NBCCS hasn't been fully understood.
methodsWe performed a whole-exome sequencing (WES) in a Han Chinese NBCCS family and two unaffected volunteers to search for its causative gene. Bioinformatic analysis was used to select candidate genes and analyze the functional networks of each candidate gene.
resultsA total of 8 single-nucleotide variants (SNVs) were detected in PTCH1, PTCH2 and SUFU in all the 5 subjects, however none of them was considered the pathogenic genetic mutation in this NBCCS family. The following filtering process identified 17 novel candidate genes (GBP3, AMPD1, ASPM, UNC5C, RBM46, HSPA1L, PNPLA1, GPR126, AP5Z1, ZFHX4, KIF24, C10orf128, COX15, GPRC5A, UGGT2, RHBDF1, RPUSD1). Among them ZFHX4 had been already identified as a new basal cell carcinoma susceptibility loci through a genome-wide association study (GWAS) and was considered the most likely pathogenic gene for this NBCCS family. The functional network analysis revealed that ZFHX4 may be involved in notch signaling pathway.
conclusionsOur study reported the identification of 17 novel candidate genes in a Han Chinese family through WES. ZFHX4 may be a susceptibility gene for NBCCS in Chinese population.
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